Growth in thanatophoric dysplasia

Elka Miller*, Elysa Widjaja

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Skeletal dysplasias are a complex group of disorders that are characterized by generalized abnormalities of the development of the skeletal growth. The majority of them result from a mutated gene. The bony presentation is characterized by abnormal growth of the limbs, absence of a limb, duplication of fingers or toes, or many other different bone abnormalities. They occur in approximately 1 in 4,000 births and the mode of inheritance is variable, either sporadic (not inherited) or hereditary (recessive or dominant). The understanding of these dysplasias can guide the family for a better genetic council in pregnancy and in future family planning. Thanatophoric dysplasia (TD) is the most common of the lethal skeletal dysplasias, caused by different mutations of fibroblast growth factor receptor 3 (FGFR3) gene. It is one of the short-limb dysplasia and has been classified into two different types, type I and type II, that have a diverse range of phenotypes and genotypes, with the most common difference being the presence of cloverleaf skull in TD type II. Early diagnosis, ideally in utero, is critical because the condition leads to death in utero or shortly after birth. The purpose of this review is to describe the clinical, radiologic, pathologic, and molecular features of TD and newer advances in the different fields that involve this entity.

Original languageEnglish (US)
Title of host publicationHandbook of Growth and Growth Monitoring in Health and Disease
PublisherSpringer New York
Pages2349-2363
Number of pages15
ISBN (Electronic)9781441917959
ISBN (Print)9781441917942
DOIs
StatePublished - Jan 1 2012

ASJC Scopus subject areas

  • General Nursing

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